Pfeiffer syndrome type 2: further delineation and review of the literature.
We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients with PS type 2 died shortly after birth. Causes of death include pulmonary problems, brain abnormalities, prematurity and post-operative complications. DNA studies were performed in 3 of the 5 patients. Two of them showed a 1036T --> C mutation in the fibroblast growth factor receptor 2 (FGFR2) gene, that was earlier reported in PS and in Crouzon syndrome. Probably most, if not all, PS type 2 cases are caused by a de novo mutation in the FGFR2 gene or in another, yet unidentified gene. To date all type 2 cases have been non-familial. A low recurrence risk for parents can be advised.
Plomp
A S
AS
Department of Clinical Genetics, Academic Hospital Maastricht, The Netherlands.
Hamel
B C
BC
Cobben
J M
JM
Verloes
A
A
Offermans
J P
JP
Lajeunie
E
E
Fryns
J P
JP
de Die-Smulders
C E
CE
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000168:Acrocephalosyndactylia / Q000145:classification / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005313:Fetal Death / Q000235:genetics; D005346:Fibroblast Growth Factors / Q000235:genetics / Q000378:metabolism; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
D017468:Receptors, Fibroblast Growth Factor; D005346:Fibroblast Growth Factors; C496348:FGFR1 protein, human; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051496:Receptor, Fibroblast Growth Factor, Type 1; D051497:Receptor, Fibroblast Growth Factor, Type 2